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Results: 1-9 |
Results: 9
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
Authors: Di Donato, S Gellera, C Mariotti, C
Citation: S. Di Donato et al., The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias, NEUROL SCI, 22(3), 2001, pp. 219-228
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
Authors: Gellera, C Castellotti, B Riggio, MC Silani, V Morandi, L Testa, D Casali, C Taroni, F Di Donato, S Zeviani, M Mariotti, C
Citation: C. Gellera et al., Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations, NEUROMUSC D, 11(4), 2001, pp. 404-410
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
Authors: Mariotti, C Gellera, C Grisoli, M Mineri, R Castucci, A Di Donato, S
Citation: C. Mariotti et al., Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient, NEUROLOGY, 57(8), 2001, pp. 1502-1504
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families
Authors: Mariotti, C Castellotti, B Pareyson, D Testa, D Eoli, M Antozzi, C Silani, V Marconi, R Tezzon, F Siciliano, G Marchini, C Gellera, C Di Donato, S
Citation: C. Mariotti et al., Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families, NEUROMUSC D, 10(6), 2000, pp. 391-397
Disorders related to mitochondrial membranes: Pathology of the respiratorychain and neurodegeneration
Authors: Di Donato, S
Citation: S. Di Donato, Disorders related to mitochondrial membranes: Pathology of the respiratorychain and neurodegeneration, J INH MET D, 23(3), 2000, pp. 247-263
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families
Authors: Filla, A Mariotti, C Caruso, G Coppola, G Cocozza, S Castaldo, I Calabrese, O Salvatore, E De Michele, G Riggio, MC Pareyson, D Gellera, C Di Donato, S
Citation: A. Filla et al., Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families, EUR NEUROL, 44(1), 2000, pp. 31-36
Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
Authors: Pareyson, D Gellera, C Castellotti, B Antonelli, A Riggio, MC Mazzucchelli, F Girotti, F Pietrini, V Mariotti, C Di Donato, S
Citation: D. Pareyson et al., Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes, J NEUROL, 246(5), 1999, pp. 389-393
Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells
Authors: Torchiana, E Lulli, L Cattaneo, E Invernizzi, F Orefice, R Bertagnolio, B Di Donato, S Finocchiaro, G
Citation: E. Torchiana et al., Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells, NEUROREPORT, 9(17), 1998, pp. 3823-3827
The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias
Authors: Di Donato, S
Citation: S. Di Donato, The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias, ITAL J NEUR, 19(6), 1998, pp. 335-343
Risultati: 1-9 |